BCAP 31 Mutation Causing a Syndrome of Congenital Dystonia, Facial Dysorphism and Central Hypomyelination Discovered Using Exome Sequencing
Authors:
- 28 October 2015
- journal article
- research article
- Published by Wiley in Movement Disorders Clinical Practice
- Vol. 3 (2) , 197-199
Abstract
No abstract availableKeywords
This publication has 5 references indexed in Scilit:
- Exome sequencing reveals a novel WDR45 frameshift mutation and inherited POLR3A heterozygous variants in a female with a complex phenotype and mixed brain MRI findingsEuropean Journal of Medical Genetics, 2015
- Isolated and combined dystonia syndromes – an update on new genes and their phenotypesEuropean Journal of Neurology, 2015
- Dystonia in children and adolescents: a systematic review and a new diagnostic algorithmJournal of Neurology, Neurosurgery & Psychiatry, 2014
- Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi ApparatusThe American Journal of Human Genetics, 2013
- The syndrome of deafness‐dystonia: Clinical and genetic heterogeneityMovement Disorders, 2013